Title:Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus
Volume: 21
Issue: 2
Author(s): Anna Degtyareva, Alina Dokshukina*, Elena Filippova, Jekaterina Shubina, Ekaterina Tolmacheva, Igor Sadelov, Marina Albegova and Dmitriy Degtyarev
Affiliation:
- Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and
Perinatology Named after Academician V.I. Kulakov, Moscow, Russia
Keywords:
Сholestasis, jaundice, congenital diarrhea, osteootohepatoenteric syndrome, UNC45A gene, diagnosis.
Abstract:
Background: Cholestatic liver disease is an important cause of morbidity and mortality
and a leading indication for liver transplantation in children. These include diseases, such as
biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis,
bile acid synthesis defects, and many others.
Case Presentation: NGS was used as a diagnostic tool to identify the genetic cause in the patient
with cholestatic syndrome and to figure out and describe what mutation will be found. In the present
observation, the cholestasis syndrome with low GGT activity and intense pruritus was the
leading symptom of the patient. The examination also revealed other characteristic features of osteo-
oto-hepato-enteric syndrome. The patient had facial features that mimicked Alagille syndrome,
which complicated the diagnostic search. Moreover, the genetic test revealed two new
pathogenic variants in the UNC45A gene.
Conclusion: This clinical observation demonstrates the importance of a multidisciplinary approach
in the diagnosis of rare genetic diseases and using WES, which can accelerate the diagnosis
compared with outdated gene panels.
